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Disseminating scientific excellence
IntroductionNewborn screening (NBS) for congenital hypothyroidism (CH) became feasible after the development of radioimmunoassays (RIA) for the measurement of thyroxine (T4) [1] and thyroid stimulating hormone (TSH) from dried blood spots (DBS) [2] in the mid 1970s.Three possible screening strategie...
Read moreSweden has 10.2 million inhabitants and more than 2.4 million have a foreign background. A substantial number of immigrants come from countries where glucose-6-phosphate dehydrogenase deficiency (G6PDD) is frequent. The total birth rate annually in Sweden is approximately 117,000 and newborn screeni...
Read moreIn many countries screening for Glucose-6-Phosphate Dehydrogenase (G6PD) is a part of thenewborn screening program. In Indonesia the National Newborn screening program started in 2012 exclu-sively for Congenital Hypothyroidism and screening for G6PD has not been included in the National Screen-ing P...
Read morePatients with beta-thalassemia major (BTM) suffer from fatigue, poor physical fitness, muscle weakness, lethargy, and cardiac complications which are related to an energy crisis. Carnitine and acylcarnitine derivatives play important roles in fatty acid oxidation, and deregulation of carnitine and a...
Read moreGlucose 6 Phosphate Dehydrogenase (G6PD) is one of the rate-limiting enzymes in hexose monophosphate pathway. G6PD deficiency is an X-linked inheritable abnormality in humans and mostly males are affected, while females are carriers only. The cytogenetic location for all mutations that cause G6PD de...
Read moreLiquid Chromatography tandem mass spectrometry (LC-MS/MS) is used for the diagnosis of more than 30 inborn errors of metabolisms (IEMs). Accurate and reliable diagnosis of IEMs by quantifying amino acids (AAs) and acylcarnitines (ACs) using LC-MS/MS systems depend on the establishment of age-specifi...
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